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Case Study of Xeroderma Pigmentosum in Children

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The nine-year-old boy displays a case of Xeroderma pigmentosum (XP). This is highlighted by the symptoms of photophobia, skin lesions and pigmentation (Kumar, et al. , 2005). XP is an autosomal recessive disorder where the skin becomes extremely sensitive to ultra-violet (UV) rays emitted by the sun (Black, 2016). It is the result of mutations in one of eight genes, where seven are involved in the process to repair UV-induced photoproducts in DNA and this is done by nucleotide excision repair (NER) (Lehmann, et al. , 2011). Defects occur to the NER preventing DNA damaged by UV rays in sunlight from being repaired such as DNA distorting lesions, signalling that the NER is used to recognise UV-induced photoproducts (Kraemer, et al. , 2007).

This provides reasons as to why the nine-year-old boy has a high light sensitivity as well as the extensive lesions around the face. Initially, I searched each symptom separately, looking for definitions for them. I used ‘Google’ to find these but found that the definitions were not all related. I then used ‘Medilexicon’ to find out what each symptom meant and then ‘Google Images’ to have an idea of what they would look like. Following this, I started to search the symptoms such as “squamous cell carcinoma” but was led to websites that did not match the case study. I then combined multiple symptoms in the same search e. g. “skin lesions and pigmentation and photophobia” on ‘Google Scholar’ in order to find scientific articles in which I did. These articles linked the symptoms to Xeroderma pigmentosum as they showed individuals of a similar age displaying identical features of this disease. I compared the images I found earlier to ones in the articles I had seen to ensure that they were correct. Once I was able to diagnose the condition, I needed to find the explanation as to how this disease occurs. I used ‘Google’ to search the disease but was again led to websites that were of no relation to the case study.

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As a result, I used the Queen Mary online library to search “Xeroderma pigmentosum” to find articles which could provide detailed descriptions on what XP is and how it occurs. I managed to find a few articles which had explanations, but these were quite complex, so I combined the use of more simple definitions in order to summarise the underlying biological process which is not functioning correctly in the disease.


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